Incidental Mutation 'R6319:Tmem200a'
ID 509347
Institutional Source Beutler Lab
Gene Symbol Tmem200a
Ensembl Gene ENSMUSG00000049420
Gene Name transmembrane protein 200A
Synonyms C030003D03Rik
MMRRC Submission 044474-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R6319 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 25867080-25955713 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25869393 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 292 (V292A)
Ref Sequence ENSEMBL: ENSMUSP00000151861 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066049] [ENSMUST00000218232] [ENSMUST00000219338] [ENSMUST00000219651] [ENSMUST00000219872]
AlphaFold Q8C817
Predicted Effect probably damaging
Transcript: ENSMUST00000066049
AA Change: V292A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000064080
Gene: ENSMUSG00000049420
AA Change: V292A

DomainStartEndE-ValueType
Pfam:DUF2371 16 161 8.9e-62 PFAM
low complexity region 262 279 N/A INTRINSIC
low complexity region 387 401 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217910
Predicted Effect probably damaging
Transcript: ENSMUST00000218232
AA Change: V292A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000219338
Predicted Effect probably benign
Transcript: ENSMUST00000219651
Predicted Effect probably benign
Transcript: ENSMUST00000219872
Meta Mutation Damage Score 0.3648 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg2 T C 6: 58,651,723 (GRCm39) S372P probably benign Het
Adam34 A G 8: 44,104,952 (GRCm39) I231T probably benign Het
Adgrg6 T A 10: 14,307,366 (GRCm39) H840L probably damaging Het
Akap11 T C 14: 78,750,978 (GRCm39) T470A probably benign Het
Atp1a2 C G 1: 172,116,903 (GRCm39) R238P probably damaging Het
B430306N03Rik A T 17: 48,623,771 (GRCm39) Q24L probably damaging Het
Bmp6 A T 13: 38,530,390 (GRCm39) H161L probably benign Het
Cdca8 C A 4: 124,815,087 (GRCm39) D177Y possibly damaging Het
Col14a1 A G 15: 55,379,565 (GRCm39) T1693A probably damaging Het
Cpsf1 A G 15: 76,481,167 (GRCm39) S1230P probably damaging Het
Dcaf13 A G 15: 39,007,067 (GRCm39) T334A probably benign Het
Dhx32 A C 7: 133,338,955 (GRCm39) V360G probably damaging Het
Dmxl1 A G 18: 49,985,367 (GRCm39) T205A probably benign Het
Dxo A G 17: 35,057,367 (GRCm39) E253G probably damaging Het
Enpp1 T C 10: 24,523,929 (GRCm39) Y747C probably damaging Het
Gga2 T C 7: 121,601,389 (GRCm39) E238G possibly damaging Het
Gpn3 C T 5: 122,510,638 (GRCm39) probably benign Het
Grik4 A T 9: 42,477,632 (GRCm39) M518K probably damaging Het
Igf2r T A 17: 12,933,000 (GRCm39) S841C probably damaging Het
Itfg1 G T 8: 86,567,258 (GRCm39) T37K probably damaging Het
Kcnn4 T A 7: 24,081,165 (GRCm39) M301K possibly damaging Het
Kel C A 6: 41,679,381 (GRCm39) E127D probably benign Het
Lrp4 A G 2: 91,310,666 (GRCm39) Y569C probably damaging Het
Lrp6 A T 6: 134,518,798 (GRCm39) V89D possibly damaging Het
Mical2 A G 7: 111,927,884 (GRCm39) D674G possibly damaging Het
Mnd1 A G 3: 84,049,071 (GRCm39) S2P possibly damaging Het
Neb T A 2: 52,053,023 (GRCm39) probably null Het
Or51af1 T C 7: 103,141,932 (GRCm39) E51G possibly damaging Het
Or5h23 A G 16: 58,906,384 (GRCm39) I154T probably benign Het
Or8g17 A G 9: 38,930,810 (GRCm39) V9A probably damaging Het
Pcca G A 14: 122,820,035 (GRCm39) V60M probably damaging Het
Plekhm3 A T 1: 64,961,093 (GRCm39) Y388N probably benign Het
Prr18 G T 17: 8,560,143 (GRCm39) V100F probably damaging Het
Rnf25 T C 1: 74,634,890 (GRCm39) Y44C probably damaging Het
Smg6 T C 11: 75,047,048 (GRCm39) L1247P probably damaging Het
Spata31e2 G A 1: 26,724,482 (GRCm39) R233C probably benign Het
Tdh T C 14: 63,733,186 (GRCm39) T137A probably benign Het
Ubr3 T C 2: 69,803,758 (GRCm39) V1116A probably benign Het
Ubr4 G A 4: 139,136,200 (GRCm39) E942K possibly damaging Het
Unc5b G A 10: 60,614,580 (GRCm39) A239V probably damaging Het
Vill G C 9: 118,892,716 (GRCm39) Q376H probably benign Het
Vmn2r115 A G 17: 23,566,877 (GRCm39) E463G possibly damaging Het
Other mutations in Tmem200a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01098:Tmem200a APN 10 25,870,041 (GRCm39) missense probably damaging 0.98
IGL02323:Tmem200a APN 10 25,869,328 (GRCm39) missense probably benign 0.12
IGL02702:Tmem200a APN 10 25,869,501 (GRCm39) missense probably damaging 1.00
IGL03221:Tmem200a APN 10 25,869,922 (GRCm39) missense possibly damaging 0.54
R0467:Tmem200a UTSW 10 25,870,002 (GRCm39) missense probably benign 0.09
R1169:Tmem200a UTSW 10 25,870,246 (GRCm39) missense probably damaging 1.00
R1543:Tmem200a UTSW 10 25,954,518 (GRCm39) unclassified probably benign
R1555:Tmem200a UTSW 10 25,869,782 (GRCm39) missense probably damaging 1.00
R1630:Tmem200a UTSW 10 25,868,812 (GRCm39) missense probably damaging 1.00
R1693:Tmem200a UTSW 10 25,869,877 (GRCm39) missense possibly damaging 0.94
R1786:Tmem200a UTSW 10 25,869,825 (GRCm39) missense probably damaging 1.00
R1891:Tmem200a UTSW 10 25,869,970 (GRCm39) missense probably damaging 1.00
R2113:Tmem200a UTSW 10 25,869,220 (GRCm39) missense probably damaging 1.00
R2260:Tmem200a UTSW 10 25,869,313 (GRCm39) missense probably benign
R3793:Tmem200a UTSW 10 25,870,087 (GRCm39) missense probably damaging 1.00
R5062:Tmem200a UTSW 10 25,869,813 (GRCm39) missense probably damaging 1.00
R5178:Tmem200a UTSW 10 25,870,277 (GRCm39) missense probably benign 0.02
R5195:Tmem200a UTSW 10 25,954,854 (GRCm39) unclassified probably benign
R5208:Tmem200a UTSW 10 25,870,051 (GRCm39) missense probably benign 0.00
R6045:Tmem200a UTSW 10 25,868,905 (GRCm39) missense probably damaging 1.00
R6552:Tmem200a UTSW 10 25,869,381 (GRCm39) missense probably damaging 1.00
R7797:Tmem200a UTSW 10 25,869,864 (GRCm39) missense possibly damaging 0.95
R7961:Tmem200a UTSW 10 25,869,904 (GRCm39) missense probably damaging 1.00
R7989:Tmem200a UTSW 10 25,869,955 (GRCm39) missense probably benign
R8009:Tmem200a UTSW 10 25,869,904 (GRCm39) missense probably damaging 1.00
R8074:Tmem200a UTSW 10 25,868,850 (GRCm39) missense probably damaging 1.00
R9254:Tmem200a UTSW 10 25,869,654 (GRCm39) missense probably damaging 1.00
R9358:Tmem200a UTSW 10 25,869,677 (GRCm39) missense probably benign 0.20
Predicted Primers PCR Primer
(F):5'- GCCACAGAGGACTTGTATTGAC -3'
(R):5'- TGATGTTGACTGAAAGTAAGAGCC -3'

Sequencing Primer
(F):5'- CTTGTATTGACTAGATAGGGACTCCC -3'
(R):5'- TTGACTGAAAGTAAGAGCCTGGGG -3'
Posted On 2018-04-02